Tyrosinemia
Tyrosinemia– high concentration of tyrosine in the blood – leads to increased urinary excretion of tyrosine compounds, hepatosplenomegaly, nodular cirrhosis of the liver, multiple defects in renal tubular reabsorption and vitamin D resistant rickets. Tyrosinemia and tyrosyl excretion appear in a number of inherited (p) fermentopathies: fumarylacetoacetase deficiency (type I), tyrosine aminotransferase (type II), 4-hydroxyphenylpyruvate hydroxylase (type III). , B-diketonase, EC 3.7.1.2, 15q23-q25, 10 alleles, RAN gene). Clinically: jaundice, vomiting, diarrhea, melena, hematuria, peripheral neuropathies and paralysis, bleeding, anemia, cardiomyopathy, muscle weakness. Laboratory: tyrosinemia, tyrosiluria, aminoaciduria, methioninemia and methioninuria, hypoglycemia, hypophosphatemia, hypoproteinemia. Type II tyrosinemia occurs when there is a deficiency of tyrosine aminotransferase (*276600, tyrosine transaminase, EC 2.6,1.5, 16q22.1-q22.3, TAT gene). Clinically: ulcerative keratitis, keratosis phenomena, retardation in mental and physical development. Type III tyrosinemia (haukinsinuria) is the result of a deficiency of 4-hydroxyphenylpyruvate hydroxylase (*276710, 4-hydroxyphenylpyruvate dioxygenase, EC 1.13.11.27, 12q24-qter, RRO gene). Developmental delay, episodes of ataxia, metabolic acidosis, excretion of haukinsin (* 140350), tyrosine, 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate, anisocytosis, spherocytosis are characteristic. Notes the TAT gene). Clinically: ulcerative keratitis, keratosis phenomena, retardation in mental and physical development. Type III tyrosinemia (haukinsinuria) is the result of a deficiency of 4-hydroxyphenylpyruvate hydroxylase (*276710, 4-hydroxyphenylpyruvate dioxygenase, EC 1.13.11.27, 12q24-qter, RRO gene). Developmental delay, episodes of ataxia, metabolic acidosis, excretion of haukinsin (* 140350), tyrosine, 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate, anisocytosis, spherocytosis are characteristic. Notes the TAT gene). Clinically: ulcerative keratitis, keratosis phenomena, retardation in mental and physical development. Type III tyrosinemia (haukinsinuria) is the result of a deficiency of 4-hydroxyphenylpyruvate hydroxylase (*276710, 4-hydroxyphenylpyruvate dioxygenase, EC 1.13.11.27, 12q24-qter, RRO gene). Developmental delay, episodes of ataxia, metabolic acidosis, excretion of haukinsin (* 140350), tyrosine, 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate, anisocytosis, spherocytosis are characteristic. Notes metabolic acidosis, excretion of haukinsin (* 140350), tyrosine, 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate, anisocytosis, spherocytosis. Notes metabolic acidosis, excretion of haukinsin (* 140350), tyrosine, 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate, anisocytosis, spherocytosis. Notes
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- Catalyzed reaction: 4-hydroxyphenylpyruvate
- 02 = homogenizer
- CO2 (cofactor – iron)
- Amino acid haukinsin (2-β-cysteine-5-yl-1,4-dihydroxy-cyclo-5-en-1-yl)-acetate.
Tyrosinosis is a hereditary disease characterized by the deposition of tyrosine in the liver, kidneys and other organs; manifested by hepatomegaly, rickets-like changes in the bones, kidney damage, hemorrhagic syndrome and dysfunction of the central nervous system; probably due to deficiency of 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27) or tyrosine aminotransferase (EC 2.6.15). Literature. Niederwieser A et al: A new sulfur aminoacid, named Hawkinsin, identified in a baby with transient tyrosinemia and her mother. Clin. Chim. Acta 76: 345-356, 1977; Overturf K et al: Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I. Hum. Gene Therapy 8: 513-521, 1997; Ruetschi U et al: Human 4-hyd-roxyphenylpyruvate dioxygenase gene (HPD). Genomics 44: 292-299, 1997; St Louis M, Tanguay RM: